This table has been prepared by Dr Gisèle Bonne * - PhD and by Pr. François Rivier ** - MD, PhD
This website is developed and maintained by Dalil Hamroun** - PhD
* Sorbonne Université-Inserm, Centre of Research in Myology , Paris, France.
** Chu de Montpellier, Montpellier. France.
GT_NMD 2024 (updated 17/01/2024)
Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
PGAM2 Phosphoglycerate mutase 2 (muscle)       | 7p13-p12 | * Myopathy due to phosphoglycerate mutase deficiency - PGAMM (9.14)* Glycogen storage disease X - GSD10 (9.14) |